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Wilson's disease is a disorder in which there is a high level of copper that accumulates in the liver and other organs. Wilson's disease is a rare inherited disease that can eventually result in serious harm to the nervous system, kidneys, and eyes. However, when caught and treated early, people with Wilson's disease can expect to live normal, healthy lives.
Copper is a mineral that is vital to health in small amounts. It is found in most foods. Normally, the liver excretes excessive copper from the body, but this process does not happen in Wilson's disease. This results in excessive amounts of copper that build up in the liver. High levels of copper in the liver can damage and scar liver tissue. Excessive copper also spills over into the bloodstream, which transports copper to other areas of the body. This can result in damage, scarring, and dysfunction of other vital organs, such as the kidneys, brain and eyes.
People with Wilson's disease are born with the disorder, but symptoms generally take years to appear, usually between age four and the late teens. Symptoms include abdominal pain and abdominal swelling and jaundice. If Wilson's disease is not diagnosed and treated, it can lead to serious, even life-threatening complications, such as severe brain damage, kidney damage, liver failure, and death. For more information on symptoms and complications, refer to symptoms of Wilson's disease.
Wilson's disease is a genetic disorder that is caused by a recessive, defective gene. People at risk for Wilson's disease and its complications include those who have a biological mother and father who both carry the defective gene for the disorder. It is most common in people of Eastern European and Southern Italian descent.
Making a diagnosis of Wilson's disease begins with taking a thorough personal and family medical history, including symptoms, and completing a physical examination.
During a physical exam, a medical provider might find an enlarged abdomen, due to swelling of the liver and jaundice, or yellowing of the skin. This may occur due to the damage done to the liver by high levels of copper. An eye exam is also performed, which may reveal a brown ring around the cornea of the eyes that can appear in Wilson's disease due to build up of copper in the eyes. This is called a Kayser-Fleisher ring.
Diagnostic testing includes a blood test that measures the amount of copper in the blood. There is also a test that can be done to determine if a patient has a specific genetic mutation that causes Wilson's disease.
Additional tests, such as CT, MRI, liver function tests and other blood and urine tests, may be performed in order to rule out or confirm the development of complications, such as brain damage, liver damage, and kidney damage.
It is possible that a diagnosis of Wilson's disease can be missed or delayed because symptoms generally do not appear for years, and some symptoms are similar to those of other conditions. For more information on misdiagnosis, refer to misdiagnosis of Wilson's disease.
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